A G1103R mutation in CRB1 is co-inherited with high hyperopia and leber congenital amaurosis

Ophthalmic Genetics

Volumn 27, Issue 1, 2006, Pages 15-20

  Abouzeid, H ^a,c   Li, Y ^a   Maumenee, I H ^a   Dharmaraj, S ^a,b   Sundin, O ^b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b DEPARTMENT OF PATHOLOGY   (United States)

^c HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

Author keywords

CRB1; Hypermetropia; Leber congenital amaurosis; Linkage; Mutation

Indexed keywords

ARGININE; DNA; GUANINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CRB 1 GENE; DNA DETERMINATION; DNA FLANKING REGION; DNA POLYMORPHISM; DNA SEQUENCE; DROSOPHILA; EXON; GENE LOCUS; GENE MUTATION; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC VARIABILITY; HERITABILITY; HETEROZYGOTE; HUMAN; HYPERMETROPIA; LEBER CONGENITAL AMAUROSIS; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; MUTATOR GENE; PRIORITY JOURNAL; REFRACTION ERROR; RETINITIS PIGMENTOSA; STRUCTURAL HOMOLOGY;

BLINDNESS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HUMANS; HYPEROPIA; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PEPTIDE FRAGMENTS;

VERTEBRATA;

EID: 33645105130     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810500481840     Document Type: Article

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